title: Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene.
abstract: Abnormalities in the DAX-1 gene (dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome) are a well-recognized cause of congenital adrenal hypoplasia. DAX-1 is expressed in the adrenal cortex, gonads, hypothalamus and anterior pituitary, which gives rise to the clinical features of this deletion. Presentations are varied but salt-wasting and/or hypoglycaemia are the most common in an infant, with late onset of hypogonadotrophic hypogonadism. Over 80 different mutations in this gene have been identified. We present three unrelated cases with variable clinical presentations, all with novel mutations in the DAX-1 gene.
authors.affiliation: Paediatric Endocrinology, Department of Paediatrics, Christchurch Hospital, Canterbury, New Zealand. benwheeler51@hotmail.com
authors.forename: B
authors.initials: B
authors.lastname: Wheeler
authors.forename: P M
authors.initials: PM
authors.lastname: George
authors.forename: K
authors.initials: K
authors.lastname: Mackenzie
authors.forename: P
authors.initials: P
authors.lastname: Hunt
authors.forename: H C
authors.initials: HC
authors.lastname: Potter
authors.forename: C M
authors.initials: CM
authors.lastname: Florkowski
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D017354:Point Mutation; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins